Exome Sequencing

The exome and untranslated regulatory regions (UTRs) comprise only 1-2% of the human genome, yet house as many as 85% of disease-related mutations. As a research tool, exome sequencing is a powerful way to investigate common and rare genetic variations that play an important role in complex human diseases.

GENEWIZ provides complete solutions for exome sequencing projects from experimental design through advanced bioinformatics analysis.


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Applications

Discover relevant mutations across all coding regions

Characterize genotype-phenotype relationships

Determine important disease-related variations

Profile multiple low-frequency genotypes at the population level

Conduct variant association studies

Features & Benefits


Availability of major exome targeting technologies


Comprehensive suite of bioinformatics solutions


Dedicated support from experienced GENEWIZ scientists


Customizable depth of coverage to focus on common and/or rare variants


Fast project turnaround

Exome Sequencing Workflow

Extensive Quality Control is Performed at the Conclusion of Each Step of the Process
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    Experimental Design


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    Library Preparation & Exome Enrichment

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    Sequencing


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    Variant Calling & Downstream Analysis

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Sample Submission Guidelines

GENEWIZ accepts purified genomic DNA, frozen cell pellets as starting material for Exome Sequencing projects. We also accept formalin-fixed, paraffin-embedded (FFPE) thin tissue sections (slides) for Exome sequencing services. For detailed sample submission requirements please visit our Sample Submission Guidelines page.

 

Deliverables

All customers receive their raw data as FASTQ files. Variant discovery and customizable data analysis packages are available by request.

NGS Platforms

GENEWIZ is a certified service provider for Illumina and Life Technology NGS platforms. For information on our NGS platforms as well as recommended configurations for your projects, please visit the NGS Platforms page. GENEWIZ does not guarantee data output or quality for sequencing only projects.



How To Order


Email | Phone (1-877-GENEWIZ (436-3949), Ext. 1) | Live Chat